ClinGen Allele Registry
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Canonical Allele Identifier:
CA247658491
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.28496864T>C
GRCh37
chr13:g.29071001T>C
Linked Data - Sequence & Population
gnomAD v2:
13:29071001 T / C
gnomAD v3:
13:28496864 T / C
gnomAD v4:
chr13-28496864-T-C
Joint Max Group AF
0.93010438 (AFR)
Genomes Max Group AF
0.93010103 (AFR)
Exomes Max Group AF
0.73373636 (NFE)
Linked Data - NCBI & NCI
dbSNP:
664393
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28496864T>C , CM000675.2:g.28496864T>C
GRCh38
NC_000013.10:g.29071001T>C , CM000675.1:g.29071001T>C
GRCh37
NC_000013.9:g.27969001T>C
NCBI36
NG_012003.1:g.3265A>G
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